Expanding the phenotype of ATP6AP1 deficiency

por Barua, Subit, Berger, Sara, Pereira, Elaine M., Jobanputra, Vaidehi
Publicado 2022

3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities

por Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun
Publicado 2022

Indolent Small Intestinal CD4+ T-cell Lymphoma Is a Distinct Entity with Unique Biologic and Clinical Features

por Margolskee, Elizabeth, Jobanputra, Vaidehi, Lewis, Suzanne K., Alobeid, Bachir, Green, Peter H. R., Bhagat, Govind
Publicado 2013

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

por Abhyankar, Avinash, Lamendola‐Essel, Michelle, Brennan, Kelly, Giordano, Jessica L., Esteves, Cecilia, Felice, Vanessa, Wapner, Ronald, Jobanputra, Vaidehi
Publicado 2017

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

por Thomas-Wilson, Amanda, Dharmadhikari, Avinash V., Heymann, Jonas J., Jobanputra, Vaidehi, DiMauro, Salvatore, Hirano, Michio, Naini, Ali B., Ganapathi, Mythily
Publicado 2022

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

por Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Publicado 2022

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

por Marshall, Christian R., Bick, David, Belmont, John W., Taylor, Stacie L., Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M., Kulkarni, Shashikant, Rehm, Heidi
Publicado 2020

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

por Ganapathi, Mythily, Buchovecky, Christie M., Cristo, Fernando, Ahimaz, Priyanka, Ruzal-Shapiro, Carrie, Wou, Karen, Inácio, José M., Iglesias, Alejandro, Belo, José A., Jobanputra, Vaidehi
Publicado 2022

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders

por Margolskee, Elizabeth, Jobanputra, Vaidehi, Jain, Preti, Chen, Jinli, Ganapathi, Karthik, Nahum, Odelia, Levy, Brynn, Morscio, Julie, Murty, Vundavalli, Tousseyn, Thomas, Alobeid, Bachir, Mansukhani, Mahesh, Bhagat, Govind
Publicado 2016

Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms

por Arora, Kanika, Shah, Minita, Johnson, Molly, Sanghvi, Rashesh, Shelton, Jennifer, Nagulapalli, Kshithija, Oschwald, Dayna M., Zody, Michael C., Germer, Soren, Jobanputra, Vaidehi, Carter, Jade, Robine, Nicolas
Publicado 2019

Clinical utility of genomic sequencing: a measurement toolkit

por Hayeems, Robin Z., Dimmock, David, Bick, David, Belmont, John W., Green, Robert C., Lanpher, Brendan, Jobanputra, Vaidehi, Mendoza, Roberto, Kulkarni, Shashi, Grove, Megan E., Taylor, Stacie L., Ashley, Euan
Publicado 2020

RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via N...

por Di Napoli, Arianna, Vacca, Davide, Bertolazzi, Giorgio, Lopez, Gianluca, Piane, Maria, Germani, Aldo, Rogges, Evelina, Pepe, Giuseppina, Santanelli Di Pompeo, Fabio, Salgarello, Marzia, Jobanputra, Vaidehi, Hsiao, Susan, Wrzeszczynski, Kazimierz O., Berti, Emilio, Bhagat, Govind
Publicado 2021

Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinoma

por Wrzeszczynski, Kazimierz O., Rahman, Sadia, Frank, Mayu O., Arora, Kanika, Shah, Minita, Geiger, Heather, Felice, Vanessa, Manaa, Dina, Dikoglu, Esra, Khaira, Depinder, Chimpiri, A. Rao, Michelini, Vanessa V., Jobanputra, Vaidehi, Darnell, Robert B., Powers, Scott, Choi, Minsig
Publicado 2019

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

por Ganapathi, Mythily, Thomas-Wilson, Amanda, Buchovecky, Christie, Dharmadhikari, Avinash, Barua, Subit, Lee, Winston, Ruan, Merry Z. C., Soucy, Megan, Ragi, Sara, Tanaka, Joy, Clark, Lorraine N., Naini, Ali B., Liao, Jun, Mansukhani, Mahesh, Tsang, Stephen, Jobanputra, Vaidehi
Publicado 2022

The genetic landscape of dural marginal zone lymphomas

por Ganapathi, Karthik A., Jobanputra, Vaidehi, Iwamoto, Fabio, Jain, Preti, Chen, Jinli, Cascione, Luciano, Nahum, Odelia, Levy, Brynn, Xie, Yi, Khattar, Pallavi, Hoehn, Daniela, Bertoni, Francesco, Murty, Vundavalli V., Pittaluga, Stefania, Jaffe, Elaine S., Alobeid, Bachir, Mansukhani, Mahesh M., Bhagat, Govind
Publicado 2016

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

por Abdelhakim, Aliaa H., Dharmadhikari, Avinash V., Ragi, Sara D., de Carvalho, Jose Ronaldo Lima, Xu, Christine L., Thomas, Amanda L., Buchovecky, Christie M., Mansukhani, Mahesh M., Naini, Ali B., Liao, Jun, Jobanputra, Vaidehi, Maumenee, Irene H., Tsang, Stephen H.
Publicado 2020

Metastatic pediatric sclerosing epithelioid fibrosarcoma

por Woods, Andrew D., Purohit, Reshma, Mitchell, Laura Crocker, Collier, John R., Collier, Katherine A., Lathara, Melvin, Learned, Katrina, Vaske, Olena, Geiger, Heather, Wrzeszczynski, Kazimierz O., Jobanputra, Vaidehi, Srinivasa, Ganapati, Rudzinski, Erin R., Whelan, Kimberly, Beierle, Elizabeth, Spunt, Sheri L., Keller, Charles, Wadhwa, Aman
Publicado 2021

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

por Jain, Namrata G., Ahram, Dina F., Marasa, Maddalena, Rehman, Ateeq U., May, Halie J., Zacharoulis, Stergios, Revah-Politi, Anya, Florido, Michelle E., Whittemore, Gregory B., Aggarwal, Vimla S., Hargus, Gunnar, Anyane-Yeboa, Kwame, D’Agati, Vivette D., Lin, Fangming, Jobanputra, Vaidehi, Sanna-Cherchi, Simone
Publicado 2022

GenomeDiver: A platform for phenotype-guided medical genomic diagnosis.

por Pearson, Nathaniel M., Stolte, Christian, Shi, Kevin, Beren, Faygel, Abul-Husn, Noura S., Bertier, Gabrielle, Brown, Kaitlyn, Diaz, George A., Odgis, Jacqueline A., Suckiel, Sabrina A., Horowitz, Carol R., Wasserstein, Melissa, Gelb, Bruce D., Kenny, Eimear E., Gagnon, Charles, Jobanputra, Vaidehi, Bloom, Toby, Greally, John M.
Publicado 2021

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

por Marshall, Christian R., Chowdhury, Shimul, Taft, Ryan J., Lebo, Mathew S., Buchan, Jillian G., Harrison, Steven M., Rowsey, Ross, Klee, Eric W., Liu, Pengfei, Worthey, Elizabeth A., Jobanputra, Vaidehi, Dimmock, David, Kearney, Hutton M., Bick, David, Kulkarni, Shashikant, Taylor, Stacie L., Belmont, John W., Stavropoulos, Dimitri J., Lennon, Niall J.
Publicado 2020